Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	435
Gene name Gene Name - the full gene name approved by the HGNC.	Argininosuccinate lyase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ASL
Synonyms (NCBI Gene) Gene synonyms aliases	ASAL, ASLD
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q11.21
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28940286	C>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs28940287	C>G,T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs28940585	C>T	Pathogenic	Missense variant, coding sequence variant
rs28941472	A>G	Pathogenic	Missense variant, coding sequence variant
rs28941473	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs142637046	G>A	Pathogenic	Splice donor variant
rs143508372	C>G,T	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs145138923	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs201523601	G>T	Likely-pathogenic	Splice donor variant
rs201962738	C>A,T	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs202142867	T>A,C	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs367543005	C>T	Pathogenic	Coding sequence variant, stop gained
rs367543006	C>T	Pathogenic	Coding sequence variant, stop gained
rs369879957	C>T	Pathogenic	Coding sequence variant, stop gained
rs373697663	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, intron variant
rs374304304	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs398123126	C>T	Pathogenic	Stop gained, coding sequence variant, intron variant
rs398123127	G>A	Pathogenic, likely-pathogenic	Splice donor variant, intron variant
rs561367199	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs751590073	G>A	Pathogenic-likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs752100894	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs752783461	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs756363516	A>G	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs757109353	CT>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs759396688	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs761651320	C>T	Pathogenic	Coding sequence variant, stop gained
rs763407938	TTAC>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs764356037	G>C	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs767543051	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs768461888	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs770375565	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs777235530	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs778254333	G>A	Pathogenic	Splice acceptor variant
rs781331391	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs796051932	->TGGCACTGACCCGAGACTCTGAGCG	Pathogenic	Coding sequence variant, stop gained, intron variant, inframe insertion
rs796051933	GTCATCTCTACGC>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs869312976	T>A,G	Pathogenic	Splice donor variant
rs869312985	G>A	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs869312986	A>C	Pathogenic	Coding sequence variant, missense variant
rs869312987	G>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs869312988	T>C	Pathogenic	Coding sequence variant, missense variant
rs869312989	->AGCGGA	Pathogenic	Coding sequence variant, intron variant, inframe insertion
rs869312990	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs869312991	C>A	Pathogenic	Coding sequence variant, missense variant
rs869312992	C>T	Pathogenic	Coding sequence variant, missense variant
rs869312993	->C	Pathogenic	Coding sequence variant, frameshift variant
rs869312994	C>T	Pathogenic	Coding sequence variant, stop gained
rs932494060	T>C,G	Likely-pathogenic	Coding sequence variant, synonymous variant, stop gained
rs1057141162	T>G	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1085307952	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1268519003	T>C	Likely-pathogenic	Splice donor variant
rs1301059768	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1329070853	GTCATCTCTACGCTGCAGGCAAGAC>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs1554326239	G>C	Likely-pathogenic	Splice acceptor variant
rs1554326263	CGGCACC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554326267	GGATGTTCAAGGCAGCAAAGCCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554326365	CGC>GGCG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554327181	GTGGACCGAGAGCTGCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554327573	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1554327825	G>T	Likely-pathogenic	Splice donor variant
rs1554328206	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554328363	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554328381	AGGTACGGCCCATC>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1554328479	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1562742141	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1584028936	G>C	Likely-pathogenic	Splice acceptor variant
rs1584032751	G>-	Pathogenic	Splice acceptor variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments
MIRT803010	hsa-miR-1273f	CLIP-seq
MIRT803011	hsa-miR-339-5p	CLIP-seq
MIRT803012	hsa-miR-4287	CLIP-seq
MIRT803013	hsa-miR-4423-5p	CLIP-seq
MIRT803014	hsa-miR-4461	CLIP-seq
MIRT803015	hsa-miR-4469	CLIP-seq
MIRT803016	hsa-miR-4685-3p	CLIP-seq
MIRT803017	hsa-miR-4755-3p	CLIP-seq
MIRT803018	hsa-miR-4795-3p	CLIP-seq
MIRT803019	hsa-miR-106a	CLIP-seq
MIRT803020	hsa-miR-106b	CLIP-seq
MIRT803021	hsa-miR-17	CLIP-seq
MIRT803022	hsa-miR-1972	CLIP-seq
MIRT803023	hsa-miR-20a	CLIP-seq
MIRT803024	hsa-miR-20b	CLIP-seq
MIRT803025	hsa-miR-302a	CLIP-seq
MIRT803026	hsa-miR-302b	CLIP-seq
MIRT803027	hsa-miR-302c	CLIP-seq
MIRT803028	hsa-miR-302d	CLIP-seq
MIRT803029	hsa-miR-302e	CLIP-seq
MIRT803030	hsa-miR-3620	CLIP-seq
MIRT803031	hsa-miR-372	CLIP-seq
MIRT803032	hsa-miR-373	CLIP-seq
MIRT803033	hsa-miR-4438	CLIP-seq
MIRT803034	hsa-miR-4717-5p	CLIP-seq
MIRT803035	hsa-miR-4731-5p	CLIP-seq
MIRT803036	hsa-miR-5095	CLIP-seq
MIRT803037	hsa-miR-512-3p	CLIP-seq
MIRT803038	hsa-miR-519d	CLIP-seq
MIRT803039	hsa-miR-520a-3p	CLIP-seq
MIRT803040	hsa-miR-520b	CLIP-seq
MIRT803041	hsa-miR-520c-3p	CLIP-seq
MIRT803042	hsa-miR-520d-3p	CLIP-seq
MIRT803043	hsa-miR-520e	CLIP-seq
MIRT803044	hsa-miR-520g	CLIP-seq
MIRT803045	hsa-miR-520h	CLIP-seq
MIRT803046	hsa-miR-93	CLIP-seq
MIRT803047	hsa-miR-938	CLIP-seq
MIRT803048	hsa-miR-4261	CLIP-seq
MIRT803049	hsa-miR-4496	CLIP-seq
MIRT803050	hsa-miR-4505	CLIP-seq
MIRT803035	hsa-miR-4731-5p	CLIP-seq
MIRT803017	hsa-miR-4755-3p	CLIP-seq
MIRT803051	hsa-miR-486-3p	CLIP-seq
MIRT803052	hsa-miR-1	CLIP-seq
MIRT803053	hsa-miR-103b	CLIP-seq
MIRT803054	hsa-miR-206	CLIP-seq
MIRT803055	hsa-miR-3652	CLIP-seq
MIRT803056	hsa-miR-3673	CLIP-seq
MIRT803057	hsa-miR-4430	CLIP-seq
MIRT803058	hsa-miR-4645-5p	CLIP-seq
MIRT803059	hsa-miR-4673	CLIP-seq
MIRT803060	hsa-miR-613	CLIP-seq
MIRT1937181	hsa-miR-1184	CLIP-seq
MIRT1937182	hsa-miR-1285	CLIP-seq
MIRT1937183	hsa-miR-1343	CLIP-seq
MIRT1937184	hsa-miR-3187-5p	CLIP-seq
MIRT803048	hsa-miR-4261	CLIP-seq
MIRT1937185	hsa-miR-4418	CLIP-seq
MIRT803049	hsa-miR-4496	CLIP-seq
MIRT1937186	hsa-miR-483-3p	CLIP-seq
MIRT803051	hsa-miR-486-3p	CLIP-seq
MIRT1937187	hsa-miR-509-3-5p	CLIP-seq
MIRT1937188	hsa-miR-509-5p	CLIP-seq
MIRT1937189	hsa-miR-612	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000050	Process	Urea cycle	IEA
GO:0000050	Process	Urea cycle	TAS
GO:0004056	Function	Argininosuccinate lyase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	25416956, 26871637, 31515488, 32296183
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0042450	Process	Arginine biosynthetic process via ornithine	IBA	21873635
GO:0042802	Function	Identical protein binding	IPI	21988832, 25416956, 25502805, 31515488, 32296183
GO:0070062	Component	Extracellular exosome	HDA	19056867

MIM	HGNC	e!Ensembl
608310	746	ENSG00000126522

Protein

UniProt ID

P04424

Protein name

Argininosuccinate lyase (ASAL) (EC 4.3.2.1) (Arginosuccinase)

Protein function

Catalyzes the reversible cleavage of L-argininosuccinate to fumarate and L-arginine, an intermediate step reaction in the urea cycle mostly providing for hepatic nitrogen detoxification into excretable urea as well as de novo L-arginine synthesi

PDB

1AOS , 1K62

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00206	Lyase_1	11 → 305	Lyase	Domain
PF14698	ASL_C2	368 → 435	Argininosuccinate lyase C-terminal	Domain

Sequence

MASESGKLWGGRFVGAVDPIMEKFNASIAYDRHLWEVDVQGSKAYSRGLEKAGLLTKAEM
DQILHGLDKVAEEWAQGTFKLNSNDEDIHTANERRLKELIGATAGKLHTGRSRNDQVVTD
LRLWMRQTCSTLSGLLWELIRTMVDRAEAERDVLFPGYTHLQRAQPIRWSHWILSHAVAL
TRDSERLLEVRKRINVLPLGSGAIAGNPLGVDRELLRAELNFGAITLNSMDATSERDFVA
EFLFWASLCMTHLSRMAEDLILYCTKEFSFVQLSDAYSTGSSLMPQKKNPDSLELIRSKA
GRVFGRCAGLLMTLKGLPSTYNKDLQEDKEAVFEVSDTMSAVLQVATGVISTLQIHQENM
GQALSPDMLATDLAYYLVRKGMPFRQAHEASGKAVFMAETKGVALNQLSLQELQTISPLF
SGDVICVWDYGHSVEQYGALGGTARSSVDWQIRQVRALLQAQQA

Sequence length

464

Interactions

View interactions

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Alzheimer disease	Alzheimer disease			GWAS

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text Mining
Argininosuccinic Aciduria	Associate	12512996, 2263616, 24136197, 25778938, 26843370, 28251416, 282632, 31183366, 31943503, 32410394, 36870389
Autistic Disorder	Associate	8845770
Bronchiolitis Obliterans Syndrome	Associate	36870389
Carcinoma Hepatocellular	Associate	28035420
Diabetic Foot	Associate	38287255
Drug Hypersensitivity	Associate	23328665
Ependymoma	Associate	35782058
Glioblastoma	Associate	23328665, 28245795
Glioma	Associate	28245795
Gyrate Atrophy	Stimulate	35782058
Intellectual Disability	Associate	8366112, 8845770
Liver Diseases	Associate	31943503
Liver Neoplasms	Associate	28035420, 30176945
Lupus Erythematosus Systemic	Associate	15312140
Lymphoma Non Hodgkin	Associate	35782058
Medulloblastoma	Associate	35782058
Neoplasms	Associate	23328665, 34439753, 34535676, 35782058
Polycystic Ovary Syndrome	Associate	29055959
Stomach Neoplasms	Associate	34439753
Urea Cycle Disorders Inborn	Associate	25778938, 32410394

ASL (argininosuccinate lyase)